ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) (rs142317242)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000302183 SCV000397754 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359252 SCV000397755 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271829 SCV000397756 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232122 SCV000290126 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2016-02-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1188 of the RPGRIP1L protein (p.Val1188Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs142317242, ExAC 0.2%) but has not been reported in the literature in individuals with a RPGRIP1L-related disease. The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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